A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574279



Internal ID18702477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:103738283..103752130hg38UCSC Ensembl
InnerchrX:102993211..103007058hg19UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg3813848
hg1913848
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2354e212
Supporting Variantsessv9828047, essv9828039, essv9828048, essv9828043, essv9828035, essv9828040, essv9828050, essv9828041, essv9828051, essv9828049, essv9828038, essv9828036, essv9828037, essv9828042, essv9828046, essv9828045
Samples400359OR, 400917CG, 400855BD, 400953MR, 400379BB, 401006ES, 400773GS, 401085LA, 400738WM, 401125LM, 401813DN, 401619BT, 401608GE, 400792RE, 401177SL, 400801HS
Known Genes
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3574279
Frequency
Sample Size873
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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